Primary moyamoya disease is a rare progressive cerebrovascular disorder that primarily affects the blood vessels in the brain. It is characterized by the narrowing and blockage of certain blood vessels, particularly the internal carotid arteries and the arteries that supply blood to the brain. This condition leads to inadequate blood flow to various regions of the brain, resulting in ischemia and potentially leading to stroke.
The term "primary" indicates that this condition occurs spontaneously, without any known underlying cause or associated disorder. Moyamoya disease is believed to have a multifactorial etiology, involving genetic, environmental, and possibly autoimmune factors. It is commonly found in east Asian populations, but it can affect individuals of any ethnic background and age, with a peak occurrence in childhood and early adulthood.
Clinical manifestations of primary moyamoya disease often include transient ischemic attacks (TIAs), recurrent strokes, and cognitive impairment. Patients may also experience headaches, seizures, and sometimes hemorrhagic strokes. The diagnosis of moyamoya disease is typically made through neuroimaging techniques such as angiography, which allows visualization of the characteristic "puff of smoke" appearance of the narrowed blood vessels.
Treatment options for primary moyamoya disease focus on improving blood flow to the brain and preventing further ischemic events. Surgical interventions, such as indirect bypass procedures and direct revascularization surgeries, are commonly employed to enhance blood flow and restore circulation. Medications to control risk factors, such as high blood pressure and cholesterol levels, are also part of the management plan. Long-term monitoring and follow-up are crucial due to the chronic nature and potential progression of this condition.
